Document Detail

Methylmalonic acidaemia in pregnancy.
MedLine Citation:
PMID:  24686805     Owner:  NLM     Status:  In-Data-Review    
A 27-year-old woman with vitamin B12 responsive form of methylmalonic acidaemia (MMA) was pregnant with her first child. Treatment was unaltered during pregnancy: a low-protein diet and supplements. Her pregnancy was uncomplicated. She had a spontaneous delivery of a healthy girl with no MMA. The postpartum period was uneventful. MMA is a rare autosomal recessive metabolic disorder caused by a deficiency of methylmalonyl coenzyme A mutase or its vitamin B12-dependent cofactor, leading to a toxic accumulation of methylmalonyl acid in plasma and urine. Clinical presentation involves otherwise unexplained deterioration and neurological dysfunction, recurrent vomiting, dehydration, lethargy, respiratory distress and muscular hypotonia. Long-term sequelae are neurological problems, renal failure, pancreatitis and cardiomyopathy. This is the 11th reported case of pregnancy in a woman with MMA.
Yves Jacquemyn; Marieke Den Hartog; Francois Eyskens
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Publication Detail:
Type:  Journal Article     Date:  2014-03-31
Journal Detail:
Title:  BMJ case reports     Volume:  2014     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2014  
Date Detail:
Created Date:  2014-04-01     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
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